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Nicole M. Muschol
~ 200  results:
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1

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107974 , 2024
Link: https://doi.org/10.1016/..
 
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2

Development of a suspicion index tool to aid diagnosis of A..:

Wiesinger, Anna-Maria ; Lauth, Wanda ; Giugliani, Roberto...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108082 , 2024
Link: https://doi.org/10.1016/..
 
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3

Experiences and challenges of pregnancies in a patient with..:

Aries, Charlotte ; Lindschau, Mona ; Rudolph, Cornelia.
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107753 , 2024
Link: https://doi.org/10.1016/..
 
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4

A phase I/II clinical trial of JR-441 for treatment of Sanf..:

Muschol, Nicole M. ; Lindschau, Mona ; Quitmann, Christina...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107973 , 2024
Link: https://doi.org/10.1016/..
 
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5

Alpha-mannosidosis international caregiver and patient surv..:

Guffon, Nathalie ; Lampe, Christina ; Muschol, Nicole M....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107865 , 2024
Link: https://doi.org/10.1016/..
 
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6

Survival, cardiac, and pulmonary outcomes in individuals wi..:

Ghosh, Arunabha ; Giugliani, Roberto ; Clarke, Lorne A....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107840 , 2024
Link: https://doi.org/10.1016/..
 
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7

Hip dysplasia in Hurler syndrome: A retrospective analysis ..:

Quitmann, Christina M. ; Breyer, Sandra R. ; Lindschau, Mona..
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108010 , 2024
Link: https://doi.org/10.1016/..
 
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8

Schindler disease type III: Clinical presentation of a pati..:

Förster, Luise ; Tiede, Stephan ; Rudolph, Cornelia.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107104 , 2023
Link: https://doi.org/10.1016/..
 
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9

Development of consensus guidelines for the clinical care o..:

O'Neill, Cara ; Giugliani, Roberto ; Jones, Simon...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107251 , 2023
Link: https://doi.org/10.1016/..
 
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10

Baseline characteristics of a real-world population with al..:

Guffon, Nathalie ; Muschol, Nicole M. ; Ballabeni, Andrea...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107130 , 2023
Link: https://doi.org/10.1016/..
 
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11

Addressing neurodegeneration in sialidosis type II with hem..:

Aries, Charlotte ; Rudolph, Cornelia ; Muschol, Nicole M.
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107006 , 2023
Link: https://doi.org/10.1016/..
 
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12

Real-world clinical profiles of patients with alpha-mannosi..:

Muschol, Nicole M. ; Guffon, Nathalie ; Ballabeni, Andrea...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107232 , 2023
Link: https://doi.org/10.1016/..
 
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13

Neurocognitive development and adaptive behavior in mucolip..:

Ammer, Luise S. ; Täuber, Karolin ; Perez, Anna...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S18 , 2022
Link: https://doi.org/10.1016/..
 
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14

Disease manifestations in mucopolysaccharidoses and their i..:

Ammer, Luise S. ; Muschol, Nicole M. ; Lang, Annika...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S17-S18 , 2022
Link: https://doi.org/10.1016/..
 
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15

Mucolipidosis type II and type III: a systematic review of ..:

Dogterom, Emma J. ; Wagenmakers, Margreet A.E.M. ; Wilke, Martina...
Genetics in Medicine.  23 (2021)  11 - p. 2047-2056 , 2021
Link: https://doi.org/10.1038/..
 
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